case arshad
TRANSCRIPT
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Personal Profile� Muhammad khayam
� Age 7 years� s/o Mir Muhammad
� Resident of Gujar khan
� Admitted on 16-05-10
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Presenting complaints� High grade fever ± 2 weeks
� Yellowish discoloration of sclera� Black coloured stools ± 1 week
� Hematemesis - 4 days
� Progressive abdominal distension� Generalised edema
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Past history� No significant medical/surgical history
� Birth eventfull
� Product of consanginous marriage
� Developmentally normal
� vaccinated
� 3 rd among sibship of 5
� family history of death of 1st cousin who had
unexplained CLD
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On examination
� Febrile ± temp 103 µF
� Deeply jaundiced
� Pallor
� Spider nevei
� Caput medusea� Clubbing
� Liver 5 cm BCM
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On examination
� Spleen 3 cm BCM
� Ascites +ve
[both shifting dullness and fluid thrill present]
� Palmer erythema
� Petechia and bruises over abdomen andlower limbs
� Pitting edema +ve
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Lab work up ± CBC
± Hb 7.2 gm/dl
± TLC 14.4 x109/l
± Plts 156 x 109/l
± LFT¶s
± Bilirubin 20 u mol/l
± ALT 59 ul
± ALK.PHOAPHATE 1051 ul
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± Coagulation profile
± PT 48/13
± APTT 38/36 ± S. Albumin
± 2.0 g/L
± RFT¶s
± Normal
± S. Electrolyte
± Normal
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± S. cerruloplasmin
± 08 mg/dl ( 19- 57mg/dl )
± Urinary copper
± 20 umol/24 hr ( 2.3-11.0 umol/24hr )
± KF ring
± negative
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� Anti nuclear antibody ±ve
� Anti smooth antibody ±ve
� Liver Kidney Microsomal Antibodies ±ve
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Final diagnosis� Wilson¶s disease
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Family screening� Elder sister sabreena 11 years old
� Deteriorating school performance
� Dystonia ± 1 month
� Had KF Rings on slit lamp examination
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� One younger brother 5 years old
� Asymtomatic
� S. cerruloplasmin 12 mg/dl
� Also diagnosed as wilson¶s disease
� Treatment started
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� 2 more siblings 12 years old &
� 3 years old
� S.cerruloplasmin normal, no KF rings
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CHR O NIC LIVER DISEASE
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CHR O NIC LIVER DISEASE
� Cirrhosis and its complications
� Progressive hepatic failure
��
� Chronicity is determined by ± Duration of liver disease:
� typically > 3-6 m
± Evidence of physical stigmata of CLD:� Clubbing
� Spider telangiectasia
� Hepatosplenomegaly
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ETIO
LO
GY� Wilson disease
� Galactosaemia
� Hereditary Fructose Intolerance
� Biliary Atresia
� Choledochal Cyst� Total Parenteral Nutrition
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ETIO
LO
GY� Viral: Hepatitis B & C
� Drugs: Isoniazid, Antimetabolites, Paracetamol
� Toxins: Indian childhood cirrhosis� Metabolic: -1-antitrypsin deficiency, Tyrosinaemia,
Haemochromatosis, Cystic Fibrosis
� Idiopatic: Autoimmune hepatitis,
hepatocellular cholestasis,
Alagille syndrome
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Wilson Disease� Reduced ceruloplasmin & defective excretion of copper
� Accumulation of copper in liver, brain, kidney & cornea
� May present with almost any form of liver disease(acute, fulminant, cirrhosis, portal hypertension)
� Neurological features� Renal tubular defects
� Hemolytic anemia
� Copper accumulation in cornea (Kayser-Fleischer rings)
Dx: serum ceruloplasmin, hepatic copper content, urinary copper
� Copper chelation therapy with D-penicillamine
� Liver transplantation
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Biliary atresia
� Progressive cholangiopathy
� 1 in 12000 ± 15000 live births
� Presents as neonatal cholestasis (jaundice, pale stools,dark urine)
� Hepatomegaly
� Splenomegaly secondary to portal hypertension
� USG abdomen: absent or contracted gall bladder
� Radioisotope scan: uptake by liver but no excretion� Chronic liver failure & death unless surgical intervention
� Hepatoportoenterostomy
� Liver Transplantation
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Choledochal cyst� Cystic dilatation of extrahepatic biliary system
� ~ 25% present in infancy with cholestasis
� Older children present with abdominal pain,
palpable mass, jaundice
� USG abdomen, radionuclide scan
� Surgical excision of the cyst
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Hereditary fructose intolerance
� Tissue accumulation of fructose-1-phosphate on fructoseingestion
� Hypoglycemia, FTT, vomiting, jaundice, hepatomegaly,
proteinuria, generalized aminoaciduria
� Death from liver failure in untreated
� Suggested by finding fructosuria
� Hypoglycemia & hypophosphatemia after i.v., fructose
loading (200 mg/kg) test� Confirmed by reduced fructose-1-phosphate aldolase in
liver
� Treatment: strict dietary avoidance of fructose
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HEPATITIS B� Hepatitis B S Ag > 6 months
� Variable biochemical tests
� Congenital ( 85% rate) or acquired
� Other Markers: DNA PCR, HBe Ag, Anti-HB c ,
Anti- HB e
� 1-5% of acute attacks become chronic� 70 % cirrhosis
� HCC carcinoma ( monitor alpha fetoprotein)
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HEPATITIS C� Congenital 1-10% or acquired
� Anti HCV: maternal persist up to 18
months, takes 6 weeks to show.� HCV RNA: I U
� 6 genotypes 1-6- geographically variable
and determines the response to therapy� Peg-Interferon and Ribavirin ( duration
depends on genotype)
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HEPATITIS D� Co-infection with B
� Outcome similar to B
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Autoimmune� 2 Types serologically
� ASMA, LKM
� Hypergammaglobuliniemia
� Elevated LFT
� Treatment: Prednisone and Azathioprine.� High relapse rate
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CIRRHO
SIS� Many definitions but common theme is injury,
repair, regeneration and scarring
� NOT a localized process; involves entire liver � Primary histologic features:
1. Marked fibrosis
2. Destruction of vascular & biliary elements
3. Regeneration4. Nodule formation
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DIAGNO
SIS� Definitive diagnosis is by biopsy or gross
inspection of liver
� Noninvasive methods include US, CT scan,
MRI
� Indirect evidence - esophageal varices seen
during endoscopy
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Portal Hypertension (PH)
� Portal vein pressure above the normal range of 5
to 8 mm Hg� Portal vein - Hepatic vein pressure gradient
greater than 5 mm Hg (>12 clinically significant)
� Represents an increase of the hydrostatic pressure
within the portal vein or its tributaries
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Sequelae of cirrhosis
� Hepatic encephalopathy
� Esophageal varices
� Portal hypertension
� Ascites
� Thrombosis of portal vein
� Infection (peritonitis)
� Carcinoma (hepatocellular)
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Investigations
� Non-specific:
Liver function tests
Serum billirubin
aminotransferases
alkaline phosphatases
Serum albumin levelCoagulation profile
USG abdomen
Endoscopy
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Specific investigations� HIDA scan
� Viral serology for hepatitis B & C
� ANA, anti LKM, anti smooth muscleantibodies
� IgG levels
� Serum ceruloplasmin levels and 24 hoursurinary excretion of copper
� Alpha 1 anti trypsin levels
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� Delta 508 mutation analysis
� Enzyme levels for various storage disorders
� Cholangiography
� Liver biopsy
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Treatment
General measures
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Treatment of cholestasisMalnutrition Medium chain triglycerides
Vitamin A 10,000- 15,000 IU / day
Vitamin D 5000-8000 IU/day
Vitamin E 50-400 IU/day
Vitamin K 2.5-5 mg/day
Water soluble vitamins Twice the recommendeddose
xanthomas Ursodeoxycholic acid 15-
20mg/kg/day
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Management of ascites� Salt restriction
� Prevention of spontaneous bacterial
peritonitis (pneumococcal vacccine)
� Albumin
� Diuretics
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Acute Management Long term management
Variceal bleeding
Management
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Treatment of encephalopathy:� Treat the precipitating cause
� Restriction of protein intake
� Laxatives for constipation
� Treat the infection
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Specific treatment
Wilsons disease Pencillamine 20 mg/kg/day
Hepatitis B Interferon(5-10 MU/meter
square S/C 3times/week for
4-6 months alpha &
lamivudine
Hepatitis C Interferon alpha 3MU/mter sq. S/C 3 times/ week+
ribavarin 15mg/kg in two
divided doses or pegylated
interferon
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Liver transplantation:� Ultimate and curative treatment
� > 85% success rate
� Limitations due to donor availability, cost
and expertise available
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THANKS